Variants studied for developmental and epileptic encephalopathy, 35

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
8	6	8	1	4	27

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ITPA	8	6	8	1	4	27

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	4	0	0	0	0	4
Baylor Genetics	0	0	3	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	1	0	0	3
Genome-Nilou Lab	0	0	0	0	3	3
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	2	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	1	0	0	0	2
TIDEX, University of British Columbia	1	0	1	0	0	2
3billion	2	0	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
DASA	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1

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